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rs1060504292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060504292(C;T)
Make rs1060504292(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108343326
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs1060504292
dbSNP (old)rs1060504292
ClinGenrs1060504292
ebirs1060504292
HLIrs1060504292
Exacrs1060504292
Gnomadrs1060504292
Varsomers1060504292
LitVarrs1060504292
Maprs1060504292
PheGenIrs1060504292
Biobankrs1060504292
1000 genomesrs1060504292
hgdprs1060504292
ensemblrs1060504292
gopubmedrs1060504292
geneviewrs1060504292
scholarrs1060504292
googlers1060504292
pharmgkbrs1060504292
gwascentralrs1060504292
openSNPrs1060504292
23andMers1060504292
23andMe allrs1060504292
SNPshotrs1060504292
SNPdbers1060504292
MSV3drs1060504292
GWAS Ctlgrs1060504292
Max Magnitude0
ClinVar
Risk rs1060504292(A;A) rs1060504292(T;T)
Alt rs1060504292(A;A) rs1060504292(T;T)
Reference Rs1060504292(C;C)
Significance Pathogenic
Disease not provided Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN not provided Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108214053C>A; NC_000011.9:g.108214053C>T
CLNSRC
CLNACC RCV000479411.1, RCV000474472.1,